rs60284988
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs60284988(C;C) |
| Make rs60284988(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107660756 |
| Gene | SLC26A4, SLC26A4-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60284988 |
| dbSNP (classic) | rs60284988 |
| ClinGen | rs60284988 |
| ebi | rs60284988 |
| HLI | rs60284988 |
| Exac | rs60284988 |
| Gnomad | rs60284988 |
| Varsome | rs60284988 |
| LitVar | rs60284988 |
| Map | rs60284988 |
| PheGenI | rs60284988 |
| Biobank | rs60284988 |
| 1000 genomes | rs60284988 |
| hgdp | rs60284988 |
| ensembl | rs60284988 |
| geneview | rs60284988 |
| scholar | rs60284988 |
| rs60284988 | |
| pharmgkb | rs60284988 |
| gwascentral | rs60284988 |
| openSNP | rs60284988 |
| 23andMe | rs60284988 |
| SNPshot | rs60284988 |
| SNPdbe | rs60284988 |
| MSV3d | rs60284988 |
| GWAS Ctlg | rs60284988 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs60284988(C;C) |
| Alt | rs60284988(C;C) |
| Reference | Rs60284988(T;T) |
| Significance | Pathogenic |
| Disease | Pendred's syndrome Enlarged vestibular aqueduct syndrome not specified SLC26A4-Related Disorders not provided |
| Variation | info |
| Gene | SLC26A4-AS1 SLC26A4 |
| CLNDBN | Pendred's syndrome Enlarged vestibular aqueduct syndrome not specified SLC26A4-Related Disorders not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.107301201T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005109.4, RCV000005110.4, RCV000154443.2, RCV000359003.1, RCV000412985.1, |
[PMID 17503324] Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
[PMID 19204907] Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
[PMID 19787632] The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?
